ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803456
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000632793
RCV002469226
RCV003126883
RCV003126884
ClinVar Variation:
527803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro180Leu
CA276902697
NM_000243.3:c.539C>T