Canonical Allele Identifier: PA658825973
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549237
ClinVar RCV Id: RCV000663733
ClinVar Variation Id: 870137
ClinVar RCV Id: RCV001089656
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1497Ser
CA392353724
NM_000138.5:c.4490G>C
CA392353732
NM_000138.5:c.4489T>A