Canonical Allele Identifier: PA658800600
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527216
ClinVar RCV Id: RCV000632027 RCV000663579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys926Tyr
CA392330722
NM_000138.5:c.2777G>A