Canonical Allele Identifier: PA658800610
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527151
ClinVar RCV Id: RCV000631920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys996Arg
CA269533518
NM_000138.5:c.2986T>C