ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826252438
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498958
ClinVar RCV Id:
RCV000597289
RCV002062034
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186930.1:p.Val1079Ile
CA1040115
NM_001200001.2:c.3235G>A