Canonical Allele Identifier: PA281021
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16461
ClinVar RCV Id: RCV000017924 RCV000017925 RCV000181681 RCV000515367 RCV000631968 RCV002307365 RCV001170326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg240Cys
CA017067
NM_000138.5:c.718C>T