Allele Registry

Canonical Allele Identifier: PA108070

Gene: NOTCH3 HGNC NCBI

ClinVar RCV:

RCV000517370

RCV000763037

RCV001526580

RCV002252148

RCV004537851

ClinVar Variation:

447794

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Arg558Cys	CA9263584 NM_000435.3:c.1672C>T