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
ENSP00000389744.1:p.Phe1002Leu	CA5138214 ENST00000437951.5:c.3006C>A CA374112160 ENST00000437951.5:c.3006C>G CA374112165 ENST00000437951.5:c.3004T>C