ClinGen Allele Registry
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Canonical Allele Identifier:
PA281437
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000084253
RCV000213159
RCV000344447
RCV000378566
RCV001195579
RCV001226114
RCV002262700
RCV002294026
ClinVar Variation:
97990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230062.1:p.Pro315Leu
CA281435
NM_001243133.2:c.944C>T