Allele Registry

Canonical Allele Identifier: PA645401305

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000274997

RCV000393046

RCV000553291

ClinVar Variation:

283460

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Val959Met	CA10071058 NM_001848.3:c.2875G>A