ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645491398
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392075
ClinVar RCV Id:
RCV000438766
RCV001861639
RCV002270478
RCV002374721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gly2195Ser
CA5339868
NM_017617.5:c.6583G>A