ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380978
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
319118
ClinVar RCV Id:
RCV000348765
RCV001812836
RCV003126675
RCV003126674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Glu93Gln
CA7860489
NM_000243.3:c.277G>C