Allele Registry

Canonical Allele Identifier: PA2830149054

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 282673

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gln548Arg	CA2189440 NM_057167.4:c.1643A>G