Canonical Allele Identifier: PA658660693
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457191
ClinVar RCV Id: RCV000556661 RCV000663623 RCV001191187 RCV002476105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1099Lys
CA050267
NM_000138.5:c.3295G>A