ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830113788
Gene: NLRP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000445355
RCV001865408
ClinVar Variation:
393319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_127499.1:p.Arg726Trp
CA8327238
NM_033006.4:c.2176C>T