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
ENSP00000498587.1:p.Ser2162Arg	CA375631532 ENST00000651671.1:c.6486C>G CA375631533 ENST00000651671.1:c.6486C>A CA375631542 ENST00000651671.1:c.6484A>C