ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280892
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132873
ClinVar RCV Id:
RCV000119310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Val338Leu
CA280890
NM_000243.3:c.1012G>C