ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499290090
Gene: NOTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Glu1037Lys
CA1040143
NM_024408.4:c.3109G>A