Allele Registry

Canonical Allele Identifier: PA2830148335

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 288944

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu2139Lys	CA2187593 NM_057166.5:c.6415G>A