Canonical Allele Identifier: PA658693189
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2520Met
CA058775
NM_000138.5:c.7559C>T