Allele Registry

Canonical Allele Identifier: PA348265

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000203986

ClinVar Variation:

219375

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Arg448Gln	CA348264 NM_017617.5:c.1343G>A