Canonical Allele Identifier: PA126535
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16457
ClinVar RCV Id: RCV000017920 RCV000181482 RCV000227621 RCV000582993 RCV000684781 RCV002313714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1073Lys
CA013900
NM_000138.5:c.3217G>A