ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280961
Gene: NLRP3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004886.3:p.Ala441Val
NM_004895.5:c.1322C>T