Canonical Allele Identifier: PA658800823
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519761
ClinVar RCV Id: RCV002314352 RCV003767799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1976Ala
CA392339887
NM_000138.5:c.5927A>C