Canonical Allele Identifier: PA2826317892
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 157939
ClinVar RCV Id: RCV000145263 RCV000413599 RCV000623574 RCV003415974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Gly758Arg
CA271172
NM_001243182.2:c.2272G>A
CA388034842
NM_001243182.2:c.2272G>C