Allele Registry

Canonical Allele Identifier: PA349408

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000205222

ClinVar Variation:

219379

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Cys1374Arg	CA349407 NM_017617.5:c.4120T>C