ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280960
Gene: NLRP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230062.1:p.Ala439Val
CA280958
NM_001243133.2:c.1316C>T