Allele Registry

Canonical Allele Identifier: PA349328

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000205123

ClinVar Variation:

219376

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Cys449Arg	CA349327 NM_017617.5:c.1345T>C