Canonical Allele Identifier: PA658692751
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495644
ClinVar RCV Id: RCV000590370 RCV000826164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2339Tyr
CA392330332
NM_000138.5:c.7016G>A