Canonical Allele Identifier: PA3081919900
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1086Ser
CA392327445
NM_000138.5:c.3257G>C
CA392327459
NM_000138.5:c.3256T>A