Canonical Allele Identifier: PA2825058559
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1740838
ClinVar RCV Id: RCV002328489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1491Ser
CA392353808
NM_000138.5:c.4472G>C
CA392353811
NM_000138.5:c.4471T>A