ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400424
Gene: NLRP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_127497.1:p.Ala66Val
NM_033004.4:c.197C>T