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_011517170.1:p.His375Gln	CA374119411 XM_011518868.1:c.1125C>G CA374119412 XM_011518868.1:c.1125C>A