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.Phe225Leu	CA337678 XM_011518872.1:c.675C>G CA374119404 XM_011518872.1:c.675C>A CA374119409 XM_011518872.1:c.673T>C