Canonical Allele Identifier: PA1139675015
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927888
ClinVar RCV Id: RCV001191460 RCV002484049 RCV002560113 RCV004010511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1573Leu
CA392352860
NM_000138.5:c.4718C>T