Canonical Allele Identifier: PA2825059557
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2217Ser
CA392333605
NM_000138.5:c.6650G>C
CA392333612
NM_000138.5:c.6649T>A