ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741841931
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689420
ClinVar RCV Id:
RCV003488025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185465.2:p.Pro50Ala
CA394484252
NM_001198536.2:c.148C>G