Allele Registry

Canonical Allele Identifier: PA2830147034

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335132

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg457Trp	CA2189222 NM_057166.5:c.1369C>T