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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000421454.1:p.[Asp168_Gly183delinsGluThrCysThrGlnAlaIleProThrThrThrGlyProProArgAla;Thr185_Phe194delinsHisProProProTyrProProArgAlaSer;Phe196_Asn198delinsSerSer]
CA2580071396
ENST00000511837.5:c.504del