Canonical Allele Identifier: PA2573163290
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685819
ClinVar RCV Id: RCV002249986 RCV002337414
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1562Arg
CA392352978
NM_000138.5:c.4684T>C