Canonical Allele Identifier: PA658660355
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457162

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys488Arg
CA392343563
NM_000138.5:c.1462T>C