Canonical Allele Identifier: PA658800599
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519754
ClinVar RCV Id: RCV000781376 RCV001180582 RCV001558691 RCV001868123 RCV002483728 RCV004002724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu925Val
CA048830
NM_000138.5:c.2773C>G