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_001317507.1:p.Thr248Ser	CA388041674 NM_001330578.2:c.743C>G CA388041680 NM_001330578.2:c.742A>T