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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000242839.4:p.[Gly1030_Val1036delinsTrpHisHisTyrProTrpArg;Arg1038_Leu1045delinsGlnGlyHisAlaGlyAlaProAla;Asp1047_Ala1049delinsGlyCysGlyHis;Leu1051Ala;Leu1053_Ala1058delinsGlnGluGlySerGlyCys;Val1060del]
CA2695218752
ENST00000242839.8:c.3087dup