ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830113949
Gene: NLRP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127499.1:p.Thr965Ile
CA8326971
NM_033006.4:c.2894C>T