Canonical Allele Identifier: PA645405817
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264487
ClinVar RCV Id: RCV000663834 RCV001093333 RCV001183769 RCV002487161 RCV002518732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1974Thr
CA055867
NM_000138.5:c.5921T>C