Allele Registry

Canonical Allele Identifier: PA107985

Gene: NOTCH3 HGNC NCBI

ClinVar RCV:

RCV000009801

RCV000517955

ClinVar Variation:

9220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Arg182Cys	CA340885 NM_000435.3:c.544C>T