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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000500964.1:p.[Ser186_Thr188delinsLysTrp;His190del;Ser193_His196delinsGlnValPheGlnPhe;Ser197_Pro198insPhe;Gly199_Ser200delinsTrpLeu;Pro202_Gln207delinsThrGluLysProGlyPro;Thr209_Ile215delinsHisMetGlnTyrHisSerAsp]
CA2697551881
ENST00000674147.1:c.556dup