Canonical Allele Identifier: PA658800609
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527187
ClinVar RCV Id: RCV000631974 RCV000757280 RCV004003817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys993Arg
CA392329308
NM_000138.5:c.2977T>C