Allele Registry

Canonical Allele Identifier: PA2830152533

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 17166

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Cys777Arg	CA257728 NM_058174.3:c.2329T>C