Allele Registry

Canonical Allele Identifier: PA645387021

Gene: NOTCH3 HGNC NCBI

ClinVar RCV:

RCV000249070

RCV000278901

RCV001521142

RCV001785538

RCV002591929

ClinVar Variation:

256152

2179365

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Ala2223Val	CA9262326 NM_000435.3:c.6668C>T CA2580096647 NM_000435.3:c.6668_6669delinsTT