Canonical Allele Identifier: PA2825057895
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073335
ClinVar RCV Id: RCV004015349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly989Ala
CA392329396
NM_000138.5:c.2966G>C