Canonical Allele Identifier: PA1139677376
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 843462
ClinVar RCV Id: RCV001046098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2552Phe
CA392325100
NM_000138.5:c.7655G>T