Canonical Allele Identifier: PA281684
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16460
ClinVar RCV Id: RCV000017923 RCV000587806 RCV003764585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr754Cys
CA012911
NM_000138.5:c.2261A>G