Canonical Allele Identifier: PA282249
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42385
ClinVar RCV Id: RCV000035227 RCV000181545 RCV001384079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1835Tyr
CA015839
NM_000138.5:c.5504G>A