Canonical Allele Identifier: PA658800644
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519795
ClinVar RCV Id: RCV002313278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1243Gly
CA392324163
NM_000138.5:c.3728A>G