Allele Registry

Canonical Allele Identifier: PA353687

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000208466

RCV001060006

RCV001509385

RCV002270023

RCV002363043

RCV002500668

RCV003401116

ClinVar Variation:

222758

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Ala2069Thr	CA353686 NM_017617.5:c.6205G>A