ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826252168
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9230
ClinVar RCV Id:
RCV000009811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186930.1:p.Cys444Tyr
CA340897
NM_001200001.2:c.1331G>A