ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573287924
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001987213
RCV002503665
RCV002562757
ClinVar Variation:
1436118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ile2304Thr
CA341874828
NM_024408.4:c.6911T>C