Allele Registry

Canonical Allele Identifier: PA2499283188

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV001373979

ClinVar Variation:

1064064

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Gly193Val	CA375570086 NM_017617.5:c.578G>T