Allele Registry

Canonical Allele Identifier: PA2830145519

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 284774

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg742Trp	CA2189167 NM_057164.5:c.2224C>T