ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074069
Gene: NLRP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127500.1:p.Leu559Val
CA8327342
NM_033007.4:c.1675C>G