ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573187004
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1530174
ClinVar RCV Id:
RCV002080193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Tyr428Cys
CA394489091
NM_001198536.2:c.1283A>G