ClinGen Allele Registry
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Canonical Allele Identifier:
PA281219
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97934
ClinVar RCV Id:
RCV000084193
RCV000223458
RCV002262693
RCV001085335
RCV001375155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230062.1:p.Arg488Lys
CA281217
NM_001243133.2:c.1463G>A