Allele Registry

Canonical Allele Identifier: PA349837

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000205720

RCV003137790

ClinVar Variation:

219374

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Pro407Arg	CA349836 NM_017617.5:c.1220C>G