Allele Registry

Canonical Allele Identifier: PA916054524

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000726381

RCV000822059

RCV003764618

ClinVar Variation:

29640

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Glu624Lys	CA259612 NM_058175.3:c.1870G>A