Canonical Allele Identifier: PA281807
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36079
ClinVar RCV Id: RCV000029741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1562Ser
CA015315
NM_000138.5:c.4684T>A
CA392352976
NM_000138.5:c.4685G>C