Canonical Allele Identifier: PA658800670
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519726
ClinVar RCV Id: RCV000663692 RCV002314323 RCV002531819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1361Tyr
CA392320408
NM_000138.5:c.4082G>A