Allele Registry

Canonical Allele Identifier: PA2830146245

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000332055

RCV000407262

RCV001209515

RCV002518047

ClinVar Variation:

288629

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ala713Val	CA2189328 NM_057165.5:c.2138C>T