Canonical Allele Identifier: PA304188
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200063
ClinVar RCV Id: RCV000181543 RCV000468318 RCV000587722 RCV000663784 RCV002314682
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1811Lys
CA015799
NM_000138.5:c.5431G>A