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.Ser1347Arg	CA375645122 XM_011518717.2:c.4041C>A CA375645125 XM_011518717.2:c.4041C>G CA375645139 XM_011518717.2:c.4039A>C