Allele Registry

Canonical Allele Identifier: PA2830147040

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000259898

RCV000274489

RCV000653619

RCV003165744

ClinVar Variation:

285464

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val462Met	CA2189216 NM_057166.5:c.1384G>A