Canonical Allele Identifier: PA915960185
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2390Ser
CA392329270
NM_000138.5:c.7169G>C
CA392329281
NM_000138.5:c.7168T>A