Canonical Allele Identifier: PA658800563
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520498
ClinVar RCV Id: RCV000622311 RCV000663522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys739Tyr
CA392335750
NM_000138.5:c.2216G>A