ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830418130
Gene: NLRP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_899632.2:p.Ala750Thr
CA1495234
NM_183395.3:c.2248G>A