Allele Registry

Canonical Allele Identifier: PA2830150646

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272622

ClinVar RCV:

RCV000330793

RCV000735335

RCV000820442

ClinVar Variation:

288385

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2581Thr	CA2187571 NM_057167.4:c.7741G>A