Allele Registry

Canonical Allele Identifier: PA2830149381

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000349597

RCV002523124

RCV003144224

ClinVar Variation:

335124

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala1082Thr	CA2189057 NM_057167.4:c.3244G>A