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.Ser1052Arg	CA374111301 ENST00000418258.5:c.3156C>G CA374111302 ENST00000418258.5:c.3156C>A CA374111308 ENST00000418258.5:c.3154A>C