ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580450835
Gene: NOD2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071445.1:p.Glu383Ter
NM_022162.3:c.1147G>T