ClinGen Allele Registry
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Canonical Allele Identifier:
PA658811014
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497629
ClinVar RCV Id:
RCV000591336
RCV002532381
RCV003905515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg2400Gln
CA1039304
NM_024408.4:c.7199G>A