Allele Registry

Canonical Allele Identifier: PA645491402

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000227496

RCV002270058

RCV002313955

ClinVar Variation:

241161

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Ser2198Leu	CA5339864 NM_017617.5:c.6593C>T