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
ENSP00000510238.1:p.His1115Gln	CA374110914 ENST00000692981.1:c.3345C>G CA374110915 ENST00000692981.1:c.3345C>A