ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280532
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97496
ClinVar RCV Id:
RCV000083748
RCV000780404
RCV002262641
RCV003126449
RCV003126450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Arg708Cys
CA280530
NM_000243.3:c.2122C>T