Allele Registry

Canonical Allele Identifier: PA2830149459

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 199089

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Thr1162Met	CA248090 NM_057167.4:c.3485C>T