Allele Registry

Canonical Allele Identifier: PA2830147039

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268358

ClinVar RCV:

RCV000390311

RCV000692494

RCV001329868

RCV004021151

ClinVar Variation:

284121

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val460Met	CA2189218 NM_057166.5:c.1378G>A