Canonical Allele Identifier: PA2825058558
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137693
ClinVar RCV Id: RCV003064269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1491Tyr
CA392353807
NM_000138.5:c.4472G>A