Canonical Allele Identifier: PA281836
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36107
ClinVar RCV Id: RCV000029769 RCV000255307 RCV000515227 RCV000586646 RCV000534047 RCV002310995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2269Thr
CA016742
NM_000138.5:c.6806T>C