ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280543
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97500
ClinVar RCV Id:
RCV000083752
RCV001175016
RCV001701661
RCV003126454
RCV003126453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Val722Met
CA280541
NM_000243.3:c.2164G>A