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.Phe310Leu	CA337678 ENST00000437951.5:c.930C>G CA374119404 ENST00000437951.5:c.930C>A CA374119409 ENST00000437951.5:c.928T>C