Allele Registry

Canonical Allele Identifier: PA2830146433

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 289131

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Thr934Met	CA2189174 NM_057165.5:c.2801C>T