Canonical Allele Identifier: PA304084
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200006
ClinVar RCV Id: RCV000181470 RCV001192951 RCV001057247 RCV001374768 RCV003996679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg976Cys
CA013523
NM_000138.5:c.2926C>T