Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ATP7A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Glu483Asp	CA413594944 NM_000052.7:c.1449A>C CA413594945 NM_000052.7:c.1449A>T