Allele Registry

Canonical Allele Identifier: PA2830150874

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000349824

RCV000689510

ClinVar Variation:

283406

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Tyr2864Cys	CA2187330 NM_057167.4:c.8591A>G