Canonical Allele Identifier: PA658690280
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495555
ClinVar RCV Id: RCV000589487 RCV003767325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys474Gly
CA392343762
NM_000138.5:c.1420T>G