Canonical Allele Identifier: PA304236
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200089
ClinVar RCV Id: RCV000181572 RCV002314684
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2210Arg
CA016575
NM_000138.5:c.6628T>C