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
ENSP00000364439.2:p.[Tyr258_Tyr260delinsLeuArg;Ser262_Asn267delinsCysLeuThrHisGlnLeu;Asp269_His287delinsArgGlyGlnSerGlySerHisProGlyGlyLeuAlaGluAspIleCysGlyGlyGlySer]
CA658797234
ENST00000375290.6:c.772dup