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
ENSP00000364439.2:p.Thr230Ser	CA374119586 ENST00000375290.6:c.689C>G CA374119590 ENST00000375290.6:c.688A>T