ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573287763
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Thr1808Ile
CA1039641
NM_024408.4:c.5423C>T