HEXA c.68T>C ;(p.L23P)

Variant ID: 15-72668246-A-G

NM_000520.4(HEXA):c.68T>C;(p.L23P)

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:

RStrucFam: a web server to associate structure and cognate RNA for RNA-binding proteins from sequence information.

Bmc Bioinformatics
Ghosh, Pritha P; Mathew, Oommen K OK; Sowdhamini, Ramanathan R
Publication Date: 2016-10-07

Variant appearance in text: HEXA: L23p
PubMed Link: 27717309
Variant Present in the following documents:
View BVdb publication page