Allele Registry

Canonical Allele Identifier: PA658810691

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000598521

RCV001070212

RCV001141144

ClinVar Variation:

500308

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Asp918Asn	CA10071022 NM_001848.3:c.2752G>A