ClinGen Allele Registry
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Canonical Allele Identifier:
PA645491897
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283843
ClinVar RCV Id:
RCV000268720
RCV000556572
RCV001753744
RCV003897609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Val1633Ile
CA1039771
NM_024408.4:c.4897G>A