Canonical Allele Identifier: PA1139674992
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 847866
ClinVar RCV Id: RCV001051501 RCV004528358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1563Tyr
CA392352968
NM_000138.5:c.4688G>A