Allele Registry

Canonical Allele Identifier: PA2741960747

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV003750179

ClinVar Variation:

2845787

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Asp1989His	CA375634832 NM_017617.5:c.5965G>C