ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280375
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083683
RCV002262630
RCV002490734
RCV003126419
RCV003126420
ClinVar Variation:
97432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro364Leu
CA280373
NM_000243.3:c.1091C>T