Canonical Allele Identifier: PA256076
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 11794
ClinVar RCV Id: RCV000012561 RCV000789727 RCV001696175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Thr994Ile
CA256075
NM_000052.7:c.2981C>T