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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826835450
Gene: NOD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4701
ClinVar RCV Id:
RCV000004966
RCV002512788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280486.1:p.Glu356Lys
CA117031
NM_001293557.2:c.1066G>A