Canonical Allele Identifier: PA1139672930
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854113
ClinVar RCV Id: RCV001059082 RCV002246016
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys684Tyr
CA392338310
NM_000138.5:c.2051G>A