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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.[Cys982_Val999delinsTrpAspAspArgAsnArgArgArgCysGlnAlaGlyGlyCysProGlyCysAla;Thr1001_Met1005delinsAlaAlaGluHis;Val1007_Ile1012delinsCysGlyArgGlySerAsp]
CA2695218780
ENST00000344297.9:c.2946_2947del