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.Phe953Leu	CA374111923 ENST00000421141.5:c.2859T>G CA374111924 ENST00000421141.5:c.2859T>A CA374111930 ENST00000421141.5:c.2857T>C