Canonical Allele Identifier: PA645406032
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255306
ClinVar RCV Id: RCV000245988 RCV000631925 RCV000663879 RCV001118927 RCV001118923 RCV001118924 RCV001118925 RCV001118926 RCV001561438
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2193Lys
CA057010
NM_000138.5:c.6577G>A