ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829787861
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_055737.1:p.Glu1244Lys
CA397389064
NM_014922.5:c.3730G>A