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
ENSP00000410287.2:p.Asn1285Lys	CA374110409 ENST00000430669.6:c.3855C>G CA374110410 ENST00000430669.6:c.3855C>A