ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580460201
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1953787
ClinVar RCV Id:
RCV002681906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Pro2377Leu
CA1039315
NM_024408.4:c.7130C>T