ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161292
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134982
ClinVar RCV Id:
RCV000121732
RCV000729463
RCV002483225
RCV002517602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Thr2327Ala
CA161291
NM_024408.4:c.6979A>G