Canonical Allele Identifier: PA658661158
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457245
ClinVar RCV Id: RCV000542942
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2131Ser
CA392336691
NM_000138.5:c.6392G>C
CA392336694
NM_000138.5:c.6391T>A