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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000304169.3:p.[Arg91_Thr110delinsAlaAlaAlaAspSerLeuTyrGlnProAlaAlaProGlyAlaGlyGlyHis;Gln112_Tyr116delinsProGluGluProLeu;Asp118_Thr121delinsGlyHisValHis]
CA2671770106
ENST00000306732.7:c.267_274del