This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509379.1:p.[Tyr228_Tyr230delinsLeuArg;Ser232_Asn237delinsCysLeuThrHisGlnLeu;Asp239_His257delinsArgGlyGlnSerGlySerHisProGlyGlyLeuAlaGluAspIleCysGlyGlyGlySer]
CA658797234
ENST00000690194.1:c.682dup