ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674844
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
942144
ClinVar RCV Id:
RCV001212071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ser683Leu
CA7859882
NM_000243.3:c.2048C>T