ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573067316
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527802
ClinVar RCV Id:
RCV000632791
RCV001815355
RCV002492960
RCV003126882
RCV003126881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Ser441Leu
CA7859928
NM_001198536.2:c.1322C>T