Allele Registry

Canonical Allele Identifier: PA2830149039

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450869

ClinVar RCV:

RCV000530306

RCV000732713

RCV003329167

ClinVar Variation:

476508

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly530Ser	CA2189456 NM_057167.4:c.1588G>A