Canonical Allele Identifier: PA658800826
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519772
ClinVar RCV Id: RCV002314360 RCV003767801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1989Trp
CA392339799
NM_000138.5:c.5967T>G