Canonical Allele Identifier: PA1139674458
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 849542

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1338Ile
CA392320563
NM_000138.5:c.4012G>A