ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580460029
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ser2107Asn
CA30313790
NM_024408.4:c.6320G>A