Canonical Allele Identifier: PA645403841
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426140
ClinVar RCV Id: RCV000489812 RCV000663859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys210Tyr
CA392446003
NM_000138.5:c.629G>A