Canonical Allele Identifier: PA1139676141
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 852975

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1971Arg
CA392339933
NM_000138.5:c.5911T>C