Canonical Allele Identifier: PA658826093
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2442Ser
CA392328490
NM_000138.5:c.7325G>C
CA392328494
NM_000138.5:c.7324T>A