Allele Registry

Canonical Allele Identifier: PA645491427

Gene: NOTCH1 HGNC NCBI

ClinVar Allele:

258550

ClinVar RCV:

RCV000423634

RCV000471243

RCV002270188

RCV002311206

ClinVar Variation:

264535

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Gly2430Ala	CA5339706 NM_017617.5:c.7289G>C