Canonical Allele Identifier: PA658800453
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519753
ClinVar RCV Id: RCV001189729 RCV001347916 RCV004002723 RCV004525987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala373Thr
CA043561
NM_000138.5:c.1117G>A