Allele Registry

Canonical Allele Identifier: PA645401324

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000335163

RCV000365797

RCV000546868

RCV001705426

ClinVar Variation:

286824

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gln1010Arg	CA10071111 NM_001848.3:c.3029A>G