Allele Registry

Canonical Allele Identifier: PA645491949

Gene: NOTCH2 HGNC NCBI

ClinVar RCV:

RCV000404846

RCV000691348

ClinVar Variation:

290858

HGVS (amino-acid)	Matching Registered Transcripts
NP_077719.2:p.Leu1740Ile	CA1039686 NM_024408.4:c.5218C>A