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
ENSP00000389744.1:p.Asp566Glu	CA374116093 ENST00000437951.5:c.1698C>G CA374116094 ENST00000437951.5:c.1698C>A