Canonical Allele Identifier: PA891845479
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582674
ClinVar RCV Id: RCV000706805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2686Arg
CA392321660
NM_000138.5:c.8056T>C