ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573186995
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518067
ClinVar RCV Id:
RCV002041254
RCV002486745
RCV003126098
RCV003126097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Glu84Gln
CA7860492
NM_001198536.2:c.250G>C