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
ENSP00000518556.1:p.Asn1046Lys	CA374111873 ENST00000711046.1:c.3138C>A CA374111874 ENST00000711046.1:c.3138C>G