Canonical Allele Identifier: PA2825059319
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075011
ClinVar RCV Id: RCV004015537
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2037Thr
CA056248
NM_000138.5:c.6110A>C