Allele Registry

Canonical Allele Identifier: PA349952

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000205841

ClinVar Variation:

219377

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Cys456Tyr	CA349951 NM_017617.5:c.1367G>A