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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000389744.2:p.[Asp1109_Glu1119delinsArgGlnGluProGlnGlyCysAlaCysProGlyAla;Met1121_Ala1129delinsValCysThrArgProGlyTrpArgArg;Ser1131_Leu1137delinsHisSerAlaGlySerAlaAsp]
CA2695210761
ENST00000437951.6:c.3323dup