Canonical Allele Identifier: PA2825059804
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2364Ser
CA392329891
NM_000138.5:c.7091G>C
CA392329903
NM_000138.5:c.7090T>A