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_011517175.1:p.Asp110Glu	CA374119300 XM_011518873.1:c.330C>G CA374119301 XM_011518873.1:c.330C>A