Canonical Allele Identifier: PA131149
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42294
ClinVar RCV Id: RCV000035128 RCV000459707 RCV000493016 RCV000663503 RCV002277117 RCV002307372 RCV002313726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu616Lys
CA012592
NM_000138.5:c.1846G>A