ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810936
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ser1708Phe
CA1039716
NM_024408.4:c.5123C>T