ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826961222
Gene: NLRP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
769055
ClinVar RCV Id:
RCV000948009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303929.1:p.Ala543Val
CA9684494
NM_001317000.1:c.1628C>T