ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA281256
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97944
ClinVar RCV Id:
RCV000084203
RCV001224375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230062.1:p.Glu567Lys
CA281254
NM_001243133.2:c.1699G>A