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.His986Gln	CA374110914 XM_011518873.1:c.2958C>G CA374110915 XM_011518873.1:c.2958C>A