ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114007
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1955223
ClinVar RCV Id:
RCV002690532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg169His
CA9263868
NM_000435.3:c.506G>A