ClinGen Allele Registry
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Canonical Allele Identifier:
PA645492065
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291198
ClinVar RCV Id:
RCV000405161
RCV000764961
RCV002061146
RCV003422203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg2298Gln
CA1039360
NM_024408.4:c.6893G>A