Canonical Allele Identifier: PA2825058601
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773343
ClinVar RCV Id: RCV003528026 RCV004011450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1522Ile
CA392353356
NM_000138.5:c.4565C>T