Allele Registry

Canonical Allele Identifier: PA645455040

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 224687

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg740Cys	CA2189454 NM_004369.4:c.2218C>T