Allele Registry

Canonical Allele Identifier: PA2830147223

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 266039

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val675Met	CA2189061 NM_057166.5:c.2023G>A