Canonical Allele Identifier: PA658825843
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549061
ClinVar RCV Id: RCV000663514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys684Ser
CA392338308
NM_000138.5:c.2051G>C
CA392338322
NM_000138.5:c.2050T>A