Canonical Allele Identifier: PA1139673652
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys996Ser
CA392329212
NM_000138.5:c.2987G>C
CA392329224
NM_000138.5:c.2986T>A