Allele Registry

Canonical Allele Identifier: PA645400598

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

268790

ClinVar RCV:

RCV000369448

RCV000653515

ClinVar Variation:

284553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly109Ser	CA10604838 NM_001848.3:c.325G>A