Canonical Allele Identifier: PA295233
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161242
ClinVar RCV Id: RCV000148498 RCV001209766 RCV001177402 RCV001588997 RCV002478411
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala686Thr
CA012746
NM_000138.5:c.2056G>A