Canonical Allele Identifier: PA281490
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg974Cys
CA013513
NM_000138.5:c.2920C>T