Canonical Allele Identifier: PA353654
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222602
ClinVar RCV Id: RCV000208274 RCV002426976
ClinVar Variation Id: 549105
ClinVar RCV Id: RCV000663572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly899Arg
CA353652
NM_000138.5:c.2695G>A
CA392331691
NM_000138.5:c.2695G>C