ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA108940
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447825
ClinVar RCV Id:
RCV000518485
RCV001800727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Tyr1021Cys
CA404514283
NM_000435.3:c.3062A>G