Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000399981.1:p.Phe996Leu	CA374111662 ENST00000421141.5:c.2988C>G CA374111663 ENST00000421141.5:c.2988C>A CA374111668 ENST00000421141.5:c.2986T>C