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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000518556.1:p.[Asp1044_Glu1054delinsArgGlnGluProGlnGlyCysAlaCysProGlyAla;Met1056_Ala1064delinsValCysThrArgProGlyTrpArgArg;Ser1066_Leu1072delinsHisSerAlaGlySerAlaAsp]
CA2695210761
ENST00000711046.1:c.3128dup