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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.[Lys1028_Leu1045delinsArgTrpHisHisTyrProTrpArgProGlnGlyHisAlaGlyAlaProAlaGly;Asp1047_Ala1049delinsCysGlyHis;Leu1051Ala;Leu1053_Ala1058delinsGlnGluGlySerGly]
CA2695218755
NM_000053.4:c.3082_3085delinsCG