ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280622
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083781
RCV003421980
ClinVar Variation:
97529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ser179Ile
CA280620
NM_000243.3:c.536G>T