Canonical Allele Identifier: PA282167
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42301
ClinVar RCV Id: RCV000035135 RCV003162296 RCV002254906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys781Arg
CA012967
NM_000138.5:c.2341T>C