ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830115428
Gene: NLRP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000455985
RCV001512625
RCV001782917
RCV001782918
RCV001782919
ClinVar Variation:
403240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127500.1:p.Met1154Val
CA8326789
NM_033007.4:c.3460A>G