Canonical Allele Identifier: PA304090
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200009
ClinVar RCV Id: RCV000181474 RCV001178815 RCV002516836 RCV003996680
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1005Lys
CA013651
NM_000138.5:c.3013G>A