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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000475617.1:p.[Ile249Asn;Thr251_Pro253delinsTyrGlnAlaLysSer;Ala255delinsGluGln;Asn257_Arg258delinsProThrCysGluPro;Leu259_Gln260insThrArgLysThrArg;Pro261delinsArgHisGlyArg;Ser263_Leu264delinsGlyPro]
CA1485100653
ENST00000557119.2:c.745dup