Allele Registry

Canonical Allele Identifier: PA891853236

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000702684

RCV002334364

ClinVar Variation:

579405

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Glu1555Lys	CA5340542 NM_017617.5:c.4663G>A