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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000342559.5:p.[Thr589_Ala598delinsLysMetAlaSerLeuMetProProLeuPro;Ala600_Ser602delinsProProAla;Ala604Pro;Val606_Ile618delinsLeuSerLeuThrArgLysLeuSerValHisGlyIleLeu]
CA2623117404
ENST00000344297.9:c.1766del