Canonical Allele Identifier: PA2499228806
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1646Ser
CA392351062
NM_000138.5:c.4937G>C
CA392351064
NM_000138.5:c.4936T>A