ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830115464
Gene: NLRP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2833765
ClinVar RCV Id:
RCV003692161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127500.1:p.Glu1214Lys
CA397389064
NM_033007.4:c.3640G>A