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Canonical Allele Identifier: Get Identifier
Gene: PITX2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000484909.1:p.[Arg38_Thr57delinsAlaAlaAlaAspSerLeuTyrGlnProAlaAlaProGlyAlaGlyGlyHis;Gln59_Tyr63delinsProGluGluProLeu;Asp65_Thr68delinsGlyHisValHis]
CA2671770106
ENST00000616641.4:c.108_115del