Canonical Allele Identifier: PA2580106581
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699701
ClinVar RCV Id: RCV002273558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1958Tyr
CA392340014
NM_000138.5:c.5873G>A