ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA108444
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2736837
ClinVar RCV Id:
RCV003560095
RCV004011415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys206Tyr
CA404533296
NM_000435.3:c.617G>A