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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000481951.2:p.[Thr87_Asn96delinsAspGlnProTyrGlySerProSerProGly;Thr98_Phe106delinsValGlnGluSerSerGlyGlnMetGlu;Asn108_Arg110delinsGluGly;Lys112_Lys115delinsGlnProAlaGly;Glu117_Gln121del;Glu123del]
CA2740563899
ENST00000614423.5:c.259_281del