Allele Registry

Canonical Allele Identifier: PA2830147498

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335121

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1120Trp	CA2188724 NM_057166.5:c.3358C>T