Allele Registry

Canonical Allele Identifier: PA2830149394

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 288398

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1095Trp	CA501184 NM_057167.4:c.3283C>T