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
ENSP00000364420.4:p.Leu83Ter	CA374119478 ENST00000375271.4:c.248T>G CA374119480 ENST00000375271.4:c.248T>A