Allele Registry

Canonical Allele Identifier: PA2830145107

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 282683

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg252Cys	CA2189504 NM_057164.5:c.754C>T