Canonical Allele Identifier: PA658826069
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549373
ClinVar RCV Id: RCV000663908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2294Ala
CA392330926
NM_000138.5:c.6881A>C