Allele Registry

Canonical Allele Identifier: PA645490887

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000408653

ClinVar Variation:

221999

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Gly193Asp	CA10602398 NM_017617.5:c.578G>A