Allele Registry

Canonical Allele Identifier: PA2830148971

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 282683

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg453Cys	CA2189504 NM_057167.4:c.1357C>T