ClinGen Allele Registry
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Canonical Allele Identifier:
PA244746
Gene: NOTCH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000177813
RCV002054103
RCV003947509
ClinVar Variation:
196926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg2256Cys
CA244745
NM_024408.4:c.6766C>T