Canonical Allele Identifier: PA645404324
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420086
ClinVar RCV Id: RCV000486760 RCV000588016 RCV000696385 RCV002466256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys748Tyr
CA16619969
NM_000138.5:c.2243G>A