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
ENSP00000518556.1:p.His309Gln	CA374119411 ENST00000711046.1:c.927C>G CA374119412 ENST00000711046.1:c.927C>A