Canonical Allele Identifier: PA281801
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36076
ClinVar RCV Id: RCV000029738 RCV000586485 RCV000755191 RCV000855643 RCV001046640 RCV001843461 RCV002326690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1489Lys
CA015124
NM_000138.5:c.4467T>A
CA392353819
NM_000138.5:c.4467T>G