Allele Registry

Canonical Allele Identifier: PA2830147341

Gene: COL6A3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ser792Arg	CA2188977 NM_057166.5:c.2376C>A CA351196565 NM_057166.5:c.2376C>G CA351196581 NM_057166.5:c.2374A>C