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Canonical Allele Identifier: Get Identifier
Gene: NKX2-5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004378.1:p.[Glu167del;Asp169_Leu171delinsThrArgPro;Ser173_Leu177delinsGlyGlnArgAlaGlu;Ser179_Gln196delinsHisValHisAlaGlyGlnAspLeuValProGluProAlaLeuGlnValGlnAlaAla]
CA2695205817
NM_004387.3:c.498dup