ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492017
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282549
ClinVar RCV Id:
RCV000276229
RCV002059111
RCV002519113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Lys2121Arg
CA1039440
NM_024408.4:c.6362A>G