Canonical Allele Identifier: PA658826037
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547338
ClinVar RCV Id: RCV000659562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2085Tyr
CA392337017
NM_000138.5:c.6254G>A