Allele Registry

Canonical Allele Identifier: PA2830147229

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

286083

ClinVar RCV:

RCV000349597

RCV002523124

RCV003144224

ClinVar Variation:

335124

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala681Thr	CA2189057 NM_057166.5:c.2041G>A