ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280337
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56152
ClinVar RCV Id:
RCV000049562
RCV002483065
RCV003125890
RCV003125889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ser288Tyr
CA280335
NM_000243.3:c.863C>A