Canonical Allele Identifier: PA913191870
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2289Ser
CA392331872
NM_000138.5:c.6866G>C
CA392331886
NM_000138.5:c.6865T>A