ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280672
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97549
ClinVar RCV Id:
RCV000083801
RCV003126492
RCV002505015
RCV003126491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro283Leu
CA280670
NM_000243.3:c.848C>T