Canonical Allele Identifier: PA353665
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222610
ClinVar RCV Id: RCV000208376 RCV002515543 RCV003144160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2274Arg
CA353663
NM_000138.5:c.6820T>C