Allele Registry

Canonical Allele Identifier: PA2830147606

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 285695

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu1252Lys	CA10605207 NM_057166.5:c.3754G>A