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: ATP7B HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Leu249Phe	CA388041656 NM_001330579.2:c.747G>T CA388041659 NM_001330579.2:c.747G>C