Canonical Allele Identifier: PA2825058177
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944079
ClinVar RCV Id: RCV003805829
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1209dup
CA2740096709
NM_000138.5:c.3625_3627dup