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.Trp278Cys	CA374119245 ENST00000375290.6:c.834G>T CA374119246 ENST00000375290.6:c.834G>C