ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053281
Gene: NLRP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_899632.1:p.Ala497Val
CA281221
NM_183395.2:c.1490C>T