Canonical Allele Identifier: PA658660866
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457202
ClinVar RCV Id: RCV000553382 RCV001560459 RCV002314921 RCV002245995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1348Tyr
CA392320494
NM_000138.5:c.4043G>A