Canonical Allele Identifier: PA2825058353
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125129
ClinVar RCV Id: RCV003049419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1345Arg
CA392320514
NM_000138.5:c.4035C>A
CA392320515
NM_000138.5:c.4035C>G
CA392320520
NM_000138.5:c.4033A>C