ClinGen Allele Registry
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Canonical Allele Identifier:
PA645492023
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284332
ClinVar RCV Id:
RCV000357190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ser2166Pro
CA10604764
NM_024408.4:c.6496T>C