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
XP_011517174.1:p.Val678Leu	CA374113970 XM_011518872.1:c.2032G>T CA374113972 XM_011518872.1:c.2032G>C