Canonical Allele Identifier: PA2826318289
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 188839
ClinVar RCV Id: RCV000169188 RCV001596981 RCV003422061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Arg1040Cys
CA274020
NM_001243182.2:c.3118C>T