Canonical Allele Identifier: PA281490
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39667
ClinVar RCV Id: RCV000032871 RCV000172857 RCV000548224 RCV000726909 RCV001186221 RCV001192805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg974Cys
CA013513
NM_000138.5:c.2920C>T