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
ENSP00000364423.2:p.[Asp1109_Leu1116delinsGlyArgGlnGluProGlnGlyCys;Leu1118_Asp1127delinsCysProGlyAlaHisValCysThrArgPro;Ala1129_Leu1134delinsTrpArgArgValHisSerAla;Val1136_Met1138delinsSerAlaAsp]
CA2695210760
ENST00000375274.6:c.3322_3325dup