Canonical Allele Identifier: PA916028283
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3866
ClinVar RCV Id: RCV000004070
ClinVar Variation Id: 2180424
ClinVar RCV Id: RCV002619246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317507.1:p.Gly691Arg
CA252903
NM_001330578.2:c.2071G>A
CA388024710
NM_001330578.2:c.2071G>C