ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580218148
Gene: NOD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2170482
ClinVar RCV Id:
RCV003080559
RCV003420342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357395.1:p.Asn983Ser
CA8052050
NM_001370466.1:c.2948A>G