Canonical Allele Identifier: PA658800724
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519764
ClinVar RCV Id: RCV002314355 RCV004002725 RCV001855276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1508Ile
CA392353559
NM_000138.5:c.4523G>T