ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826252181
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186930.1:p.Cys498Arg
CA341876700
NM_001200001.2:c.1492T>C