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
ENSP00000364423.2:p.Asn1347Lys	CA374110424 ENST00000375274.6:c.4041C>G CA374110425 ENST00000375274.6:c.4041C>A