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
ENSP00000448843.1:p.Tyr40_Gly174del	CA374116600 ENST00000546820.5:c.120C>G CA374116602 ENST00000546820.5:c.120C>A