Allele Registry

Canonical Allele Identifier: PA2830149779

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335121

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1521Trp	CA2188724 NM_057167.4:c.4561C>T