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.Thr82Ser	CA374119506 XM_011518873.1:c.245C>G CA374119509 XM_011518873.1:c.244A>T