Canonical Allele Identifier: PA658690661
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495574
ClinVar RCV Id: RCV001058020 RCV000590010 RCV002286762 RCV003224806 RCV002245999
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr746Cys
CA16602231
NM_000138.5:c.2237A>G