Canonical Allele Identifier: PA658800677
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500066
ClinVar RCV Id: RCV000595903 RCV004530696
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1391Phe
CA392320125
NM_000138.5:c.4172G>T