Allele Registry

Canonical Allele Identifier: PA645490911

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000480413

RCV002526596

ClinVar Variation:

421340

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Arg365Cys	CA16618805 NM_017617.5:c.1093C>T