Canonical Allele Identifier: PA304320
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200136
ClinVar RCV Id: RCV000181637 RCV001178820 RCV002485196 RCV003996701 RCV001362745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2851Glu
CA017816
NM_000138.5:c.8551A>G