Canonical Allele Identifier: PA913191783
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 617616
ClinVar RCV Id: RCV000754777
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys598Ser
CA392340316
NM_000138.5:c.1793G>C
CA392340320
NM_000138.5:c.1792T>A