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
ENSP00000506336.1:p.Val2000Leu	CA375634034 ENST00000680668.1:c.5998G>T CA375634036 ENST00000680668.1:c.5998G>C