Canonical Allele Identifier: PA2825057761
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070949
ClinVar RCV Id: RCV004014451

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro886Arg
CA392332048
NM_000138.5:c.2657C>G