Canonical Allele Identifier: PA2825058597
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2928011
ClinVar RCV Id: RCV003786833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1517Ile
CA392353434
NM_000138.5:c.4549T>A