Canonical Allele Identifier: PA2825058329
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137695
ClinVar RCV Id: RCV003041233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1326Arg
CA392320644
NM_000138.5:c.3976T>C