Allele Registry

Canonical Allele Identifier: PA645401009

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

265356

ClinVar RCV:

RCV000280526

RCV000403757

RCV000548930

RCV001265659

RCV001311580

ClinVar Variation:

281119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg433Gln	CA10070229 NM_001848.3:c.1298G>A