Canonical Allele Identifier: PA1139674839
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1524Ile
CA392353339
NM_000138.5:c.4570G>A