Canonical Allele Identifier: PA2499249716
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1162227
ClinVar RCV Id: RCV001507001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317507.1:p.Met947Lys
CA388030705
NM_001330578.2:c.2840T>A