Canonical Allele Identifier: PA353670
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222613
ClinVar RCV Id: RCV000208392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2474Cys
CA353668
NM_000138.5:c.7421A>G