ClinGen Allele Registry
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Canonical Allele Identifier:
PA161258
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134965
ClinVar RCV Id:
RCV000121715
RCV000725834
RCV000764962
RCV002515888
RCV003892113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg1069Gln
CA161257
NM_024408.4:c.3206G>A