Allele Registry

Canonical Allele Identifier: PA2830147111

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

195953

ClinVar RCV:

RCV000180244

RCV000653624

RCV001143453

RCV001697128

RCV002516813

RCV004553022

ClinVar Variation:

198793

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg542Gln	CA247626 NM_057166.5:c.1625G>A