Allele Registry

Canonical Allele Identifier: PA658659335

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

470792

ClinVar RCV:

RCV000559950

RCV001517676

ClinVar Variation:

476428

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly880Ser	CA10070988 NM_001848.3:c.2638G>A