ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891848015
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
578380
ClinVar RCV Id:
RCV000701365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004886.3:p.Leu701Phe
CA1495110
NM_004895.5:c.2101C>T