ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829786769
Gene: NLRP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043505
ClinVar Variation:
50316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055737.1:p.Met77Thr
CA018443
NM_014922.5:c.230T>C