ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280972
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4379
ClinVar RCV Id:
RCV000004629
RCV000219571
RCV000762894
RCV001000586
RCV000795773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230062.1:p.Leu353Pro
CA280970
NM_001243133.2:c.1058T>C