Canonical Allele Identifier: PA281674
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16444
ClinVar RCV Id: RCV000017906 RCV000242083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1223Tyr
CA014399
NM_000138.5:c.3668G>A