Allele Registry

Canonical Allele Identifier: PA2830145499

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 290337

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ala717Val	CA2189180 NM_057164.5:c.2150C>T