Canonical Allele Identifier: PA281840
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36111
ClinVar RCV Id: RCV000029773 RCV000181589 RCV000757279 RCV001087538 RCV001183241 RCV004541022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2358Ile
CA016976
NM_000138.5:c.7072G>A