Canonical Allele Identifier: PA2825279314
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2189763
ClinVar RCV Id: RCV002611801

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005918.1:p.Val392Leu
CA6989423
NM_001005918.3:c.1174G>T
CA388038564
NM_001005918.3:c.1174G>C