Canonical Allele Identifier: PA658826107
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2496Ser
CA392326066
NM_000138.5:c.7487G>C
CA392326070
NM_000138.5:c.7486T>A