Allele Registry

Canonical Allele Identifier: PA2830145477

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335130

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg689Cys	CA2189198 NM_057164.5:c.2065C>T