Canonical Allele Identifier: PA2573163190
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684737
ClinVar RCV Id: RCV002247829 RCV002260723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1343Thr
CA392320532
NM_000138.5:c.4027G>A