ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107996
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447862
ClinVar RCV Id:
RCV000517748
RCV001374652
RCV003330087
RCV000763039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg207Cys
CA9263848
NM_000435.3:c.619C>T