Canonical Allele Identifier: PA181237
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 178034
ClinVar RCV Id: RCV000154717 RCV000208039 RCV000245416 RCV000470522 RCV000766960 RCV001374810 RCV004534961 RCV002307411
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2514Arg
CA017250
NM_000138.5:c.7540G>A
CA392325893
NM_000138.5:c.7540G>C