ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826221642
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003054711
ClinVar Variation:
2119550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Gln229Lys
CA394467982
NM_001198536.2:c.685C>A