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.Val678Leu	CA374113970 ENST00000692981.1:c.2032G>T CA374113972 ENST00000692981.1:c.2032G>C