ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280420
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083702
RCV001753485
RCV003126431
RCV003126432
ClinVar Variation:
97450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ile513Thr
CA280418
NM_000243.3:c.1538T>C