Allele Registry

Canonical Allele Identifier: PA242674

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000176643

RCV000547013

RCV000764264

RCV002517701

ClinVar Variation:

195952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ile562Val	CA242672 NM_001848.3:c.1684A>G