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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:
PA2826835819
Gene: NOD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
267317
ClinVar RCV Id:
RCV000258046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280486.1:p.Val789Ile
CA10590109
NM_001293557.2:c.2365G>A