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
ENSP00000416738.3:p.Val749Leu
CA388016530
ENST00000448424.7:c.2245G>C
CA388016550
ENST00000448424.7:c.2245G>T