Canonical Allele Identifier: PA2825056809
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773405
ClinVar RCV Id: RCV003528087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly90Arg
CA392447089
NM_000138.5:c.268G>C
CA392447093
NM_000138.5:c.268G>A