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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:
PA2825609257
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97915
ClinVar RCV Id:
RCV000084174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120934.2:p.Ala374Asp
CA281141
NM_001127462.3:c.1121C>A