Canonical Allele Identifier: PA281767
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36042
ClinVar RCV Id: RCV000029702 RCV000493360 RCV000507859 RCV001798013 RCV000763357 RCV000631908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg650Cys
CA012686
NM_000138.5:c.1948C>T