Canonical Allele Identifier: PA658800679
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519799
ClinVar RCV Id: RCV000797825 RCV002313281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1402Tyr
CA392319891
NM_000138.5:c.4205G>A