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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000410287.2:p.[Asp1044_Leu1051delinsGlyArgGlnGluProGlnGlyCys;Leu1053_Asp1062delinsCysProGlyAlaHisValCysThrArgPro;Ala1064_Leu1069delinsTrpArgArgValHisSerAla;Val1071_Met1073delinsSerAlaAsp]
CA2695210760
ENST00000430669.6:c.3127_3130dup