Canonical Allele Identifier: PA281781
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36051
ClinVar RCV Id: RCV000029711 RCV002513247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser827Pro
CA013124
NM_000138.5:c.2479T>C