Canonical Allele Identifier: PA915959670
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 803090
ClinVar RCV Id: RCV000989324 RCV002549725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Arg
CA16616744
NM_000138.5:c.4048T>C