ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645428274
Gene: NLRP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001028225.1:p.Pro1218Arg
NM_001033053.3:c.3653C>G