Canonical Allele Identifier: PA295235
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161243
ClinVar RCV Id: RCV000148499 RCV000455446 RCV000771785 RCV001071912 RCV003328558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val449Ile
CA012090
NM_000138.5:c.1345G>A