Canonical Allele Identifier: PA2573162804
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520744
ClinVar RCV Id: RCV002030926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys582Tyr
CA392340556
NM_000138.5:c.1745G>A