Allele Registry

Canonical Allele Identifier: PA236333

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000171428

ClinVar Variation:

191239

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Ala2085Pro	CA236332 NM_017617.5:c.6253G>C