Canonical Allele Identifier: PA304104
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200016
ClinVar RCV Id: RCV000181484 RCV002277441 RCV002500529 RCV000690524 RCV000781357 RCV001179626 RCV003996682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His1130Arg
CA014034
NM_000138.5:c.3389A>G