ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826174622
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97430
ClinVar RCV Id:
RCV000083681
RCV003126416
RCV002483159
RCV003480054
RCV003126415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Arg143Trp
CA280367
NM_001198536.2:c.427C>T