Canonical Allele Identifier: PA658660740
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457194
ClinVar RCV Id: RCV000551753 RCV000663641 RCV004023770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1153Tyr
CA269531142
NM_000138.5:c.3458G>A