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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000484763.2:p.[Gln84_Arg88delinsSerTyrAlaArgMet;Ala90_Leu110delinsSerGlyArgSerSerMetGlySerCysSerProThrThrThrCysThrGlnAlaIleProThrThrThr;Arg112_Gln113delinsProPro]
CA2580071400
ENST00000613094.5:c.243_249dup