Canonical Allele Identifier: PA281761
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36034
ClinVar RCV Id: RCV000029694 RCV000822174 RCV001508390 RCV003223337
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg545His
CA012355
NM_000138.5:c.1634G>A