ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674136
Gene: MEFV
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Glu195Asp
CA7860390
NM_000243.3:c.585G>T
CA7860391
NM_000243.3:c.585G>C