Allele Registry

Canonical Allele Identifier: PA658810632

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

489749

ClinVar RCV:

RCV000597556

RCV000653545

ClinVar Variation:

498325

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg682Trp	CA10070729 NM_001848.3:c.2044C>T