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
XP_005252159.1:p.Asp239Glu	CA374119300 XM_005252102.2:c.717C>G CA374119301 XM_005252102.2:c.717C>A