Canonical Allele Identifier: PA658800540
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519705
ClinVar RCV Id: RCV000663513 RCV002314307 RCV001860397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys684Arg
CA392338320
NM_000138.5:c.2050T>C