Canonical Allele Identifier: PA645405824
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426268
ClinVar RCV Id: RCV000489151 RCV000707395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1998Tyr
CA392339704
NM_000138.5:c.5993G>A