Canonical Allele Identifier: PA915960309
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2646Ser
CA392323058
NM_000138.5:c.7937G>C
CA392323066
NM_000138.5:c.7936T>A