Canonical Allele Identifier: PA658826036
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2085Ser
CA392337016
NM_000138.5:c.6254G>C
CA392337020
NM_000138.5:c.6253T>A