Allele Registry

Canonical Allele Identifier: PA108057

Gene: NOTCH3 HGNC NCBI

ClinVar RCV:

RCV000516423

RCV001253276

RCV002508218

ClinVar Variation:

447791

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Arg54Cys	CA404483379 NM_000435.3:c.160C>T