Canonical Allele Identifier: PA304330
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200141
ClinVar RCV Id: RCV000181643 RCV000539344 RCV000663567 RCV002314686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys89Tyr
CA013275
NM_000138.5:c.266G>A