Allele Registry

Canonical Allele Identifier: PA2830149044

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 224687

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg534Cys	CA2189454 NM_057167.4:c.1600C>T