Allele Registry

Canonical Allele Identifier: PA163411

Gene: NOTCH1 HGNC NCBI

ClinVar RCV:

RCV000128630

ClinVar Variation:

139665

HGVS (amino-acid)	Matching Registered Transcripts
NP_060087.3:p.Gln1687His	CA163410 NM_017617.5:c.5061G>T CA375642363 NM_017617.5:c.5061G>C