ClinGen Allele Registry
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Canonical Allele Identifier:
PA913198521
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg1578His
CA1039811
NM_024408.4:c.4733G>A