Canonical Allele Identifier: PA645405897
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429578
ClinVar RCV Id: RCV000492855 RCV001334258 RCV001064950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2111Tyr
CA392336833
NM_000138.5:c.6332G>A