Canonical Allele Identifier: PA658825785
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549001
ClinVar RCV Id: RCV000663439
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys358Tyr
CA392347578
NM_000138.5:c.1073G>A