Canonical Allele Identifier: PA2499228817
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982359
ClinVar RCV Id: RCV001374842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2011Trp
CA392339488
NM_000138.5:c.6033T>G