Canonical Allele Identifier: PA645405283
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432128
ClinVar RCV Id: RCV000497648
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1497Arg
CA392353730
NM_000138.5:c.4489T>C