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Canonical Allele Identifier: Get Identifier
Gene: FAM83H HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499217.1:p.[Glu473_Ile477delinsGlyGlyValProHisPro;Phe479Arg;Gln481_Leu485del;Pro487_Ser488delinsArgAla;Ala490Cys;Ala493Gly;Met495_Ala499delinsGlyProGlyProHisGlyArg;Ala501Cys;Pro502_Tyr503insGlySer]
CA2688981398
ENST00000650760.1:c.1417dup