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
ENSP00000396135.1:p.Phe823Leu	CA5138282 ENST00000418258.5:c.2469C>G CA374112775 ENST00000418258.5:c.2469C>A CA374112780 ENST00000418258.5:c.2467T>C