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PCSK9 c.1549G>C ;(p.G517R)
Variant ID: 1-55525204-G-C
NM_174936.3(
PCSK9
):c.1549G>C;(p.G517R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020
Variant appearance in text: PCSK9: G517R
PubMed Link:
33173529
Variant Present in the following documents:
Main text
fgene-11-01020.pdf
View BVdb publication page