Allele Registry

Canonical Allele Identifier: PA2830147067

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335130

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg489Cys	CA2189198 NM_057166.5:c.1465C>T