Canonical Allele Identifier: PA658825883
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549125
ClinVar RCV Id: RCV000663595 RCV001861729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1008Arg
CA392329001
NM_000138.5:c.3022T>C