Allele Registry

Canonical Allele Identifier: PA645455000

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

288455

ClinVar RCV:

RCV000404863

RCV000730387

RCV001087014

ClinVar Variation:

335140

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ser521Leu	CA2189596 NM_004369.4:c.1562C>T