ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499229965
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001303574
RCV002486172
RCV003127776
RCV003127777
ClinVar Variation:
1006519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Lys174Glu
CA394480989
NM_000243.3:c.520A>G