Canonical Allele Identifier: PA2825058647
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070841
ClinVar RCV Id: RCV004013351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1554Glu
CA392353021
NM_000138.5:c.4661G>A