ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580459854
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Arg1727Leu
CA341886720
NM_024408.4:c.5180G>T