ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580460197
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130647
ClinVar RCV Id:
RCV003052200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ala2366Val
CA1039320
NM_024408.4:c.7097C>T