ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499232360
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1256523
ClinVar RCV Id:
RCV001663865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys162Phe
CA404533862
NM_000435.3:c.485G>T