Canonical Allele Identifier: PA645403799
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374203
ClinVar RCV Id: RCV000415236 RCV001389968 RCV002250623 RCV003993950
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys160Arg
CA16043496
NM_000138.5:c.478T>C