Canonical Allele Identifier: PA658800480
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502478
ClinVar RCV Id: RCV000594033 RCV000663463 RCV002531108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys494Ser
CA392342805
NM_000138.5:c.1481G>C
CA392342813
NM_000138.5:c.1480T>A