Canonical Allele Identifier: PA645406323
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427047

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2485Gly
CA392326285
NM_000138.5:c.7454A>G