Canonical Allele Identifier: PA915959955
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2038Ser
CA392338198
NM_000138.5:c.6113G>C
CA392338209
NM_000138.5:c.6112T>A