Canonical Allele Identifier: PA2825058356
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1737282
ClinVar RCV Id: RCV002321201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys1347Ile
CA392320500
NM_000138.5:c.4040A>T