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
NP_001341848.1:p.[Gln152_Cys160delinsGlySerAspAsnArgIleSer;Ile162_Thr164del;Leu166_Asp167insPhe;Cys168_Glu171delinsTyrTyrThrPhe;Ala173_Lys174delinsLeuLeu;Gln176_Ser177delinsGlyArg;Gly178_Thr179insGluIle;Ala180_Tyr181delinsValTrpAspSerIle]
CA2573053210
NM_001354919.1:c.450_453dup