Canonical Allele Identifier: PA916006169
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 633070
ClinVar RCV Id: RCV000780932
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Cys989Ser
CA388028549
NM_001243182.2:c.2966G>C
CA388028574
NM_001243182.2:c.2965T>A