Allele Registry

Canonical Allele Identifier: PA2830147253

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000341791

RCV002519336

ClinVar Variation:

290193

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val705Met	CA2189037 NM_057166.5:c.2113G>A