Canonical Allele Identifier: PA304385
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200192
ClinVar RCV Id: RCV000181699 RCV001060030 RCV002362930 RCV000663870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2142Tyr
CA016442
NM_000138.5:c.6425G>A