Canonical Allele Identifier: PA2825058672
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742577
ClinVar RCV Id: RCV002330592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp1570del
CA2580089659
NM_000138.5:c.4708_4710del