Canonical Allele Identifier: PA658660730
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452521
ClinVar RCV Id: RCV000519310 RCV001858030 RCV001180375 RCV002490922 RCV004003641
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1149Ser
CA050611
NM_000138.5:c.3446A>G