Canonical Allele Identifier: PA2499228793
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1075671
ClinVar RCV Id: RCV001389340 RCV002246020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1389Tyr
CA392320159
NM_000138.5:c.4166G>A