Allele Registry

Canonical Allele Identifier: PA658659331

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

469745

ClinVar RCV:

RCV000555212

RCV003139856

ClinVar Variation:

476427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg872Gln	CA10070982 NM_001848.3:c.2615G>A