ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580112372
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804662
ClinVar RCV Id:
RCV002469959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Lys519Met
CA394463322
NM_000243.3:c.1556A>T