Canonical Allele Identifier: PA353630
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222611
ClinVar RCV Id: RCV000208020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2289Arg
CA353628
NM_000138.5:c.6865T>C