ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573287943
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1405698
ClinVar RCV Id:
RCV001906646
RCV002507015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg2347His
CA1039330
NM_024408.4:c.7040G>A