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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489512.2:p.Leu249Phe
CA388041656
ENST00000634296.2:c.747G>T
CA388041659
ENST00000634296.2:c.747G>C