ClinGen Allele Registry
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Canonical Allele Identifier:
PA281438
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_004886.3:p.Pro317Leu
CA281435
NM_004895.5:c.950C>T