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
ENSP00000383217.3:p.Leu1193Phe
CA6988535
ENST00000400366.6:c.3579G>T
CA388021237
ENST00000400366.6:c.3579G>C
CA658798147
ENST00000400366.6:c.3579_3580delinsTT