Canonical Allele Identifier: PA658825753
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549100
ClinVar RCV Id: RCV000663565

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys89Arg
CA392447117
NM_000138.5:c.265T>C