Canonical Allele Identifier: PA913191845
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 618121
ClinVar RCV Id: RCV000756144 RCV001805836 RCV002533119 RCV003999885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2002Leu
CA392339640
NM_000138.5:c.6005C>T