Canonical Allele Identifier: PA658826012
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547333
ClinVar RCV Id: RCV000659557 RCV002352071
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1930Asn
CA392341002
NM_000138.5:c.5788G>A