Canonical Allele Identifier: PA1139674801
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920832
ClinVar RCV Id: RCV001179880 RCV002280898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1515Ser
CA392353458
NM_000138.5:c.4543C>T