ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658673102
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447850
ClinVar RCV Id:
RCV000516804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys146Phe
CA404534071
NM_000435.3:c.437G>T