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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347004.2:p.[Arg84_Thr103delinsAlaAlaAlaAspSerLeuTyrGlnProAlaAlaProGlyAlaGlyGlyHis;Gln105_Tyr109delinsProGluGluProLeu;Asp111_Thr114delinsGlyHisValHis]
CA2671770106
ENST00000354925.6:c.246_253del