Allele Registry

Canonical Allele Identifier: PA2830147695

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

285426

ClinVar RCV:

RCV000314267

RCV001597100

RCV002519952

RCV003137960

ClinVar Variation:

335116

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val1338Met	CA2188571 NM_057166.5:c.4012G>A