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: NOTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011517019.2:p.Ser1416Arg	CA346558 XM_011518717.2:c.4248C>G CA375644179 XM_011518717.2:c.4248C>A CA375644191 XM_011518717.2:c.4246A>C