Canonical Allele Identifier: PA645510447
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439718
ClinVar RCV Id: RCV000507114 RCV000805224 RCV001770386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1387Asp
CA392320183
NM_000138.5:c.4159T>G