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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:
PA2828433036
Gene: NOD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1694108
ClinVar RCV Id:
RCV002261977
RCV003095915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357395.1:p.Arg675Gln
CA8051692
NM_001370466.1:c.2024G>A