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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:
PA2830113307
Gene: NLRP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4163
ClinVar RCV Id:
RCV000004380
RCV001510771
RCV001781175
RCV001781177
RCV003390641
RCV001781176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127499.1:p.Leu155His
CA018555
NM_033006.4:c.464T>A