ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280363
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97428
ClinVar RCV Id:
RCV000083679
RCV000417776
RCV000755567
RCV002262629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Arg348His
CA280361
NM_000243.3:c.1043G>A