Canonical Allele Identifier: PA281019
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16437
ClinVar RCV Id: RCV000017899 RCV000422790 RCV000695313 RCV002381253 RCV000417099 RCV000844887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2447Lys
CA017155
NM_000138.5:c.7339G>A