Canonical Allele Identifier: PA645406311
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427179
ClinVar RCV Id: RCV000489574 RCV000791340 RCV001217017 RCV002314846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2468Arg
CA392327790
NM_000138.5:c.7402T>C