Canonical Allele Identifier: PA658826003
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1853Ser
CA392342527
NM_000138.5:c.5558G>C
CA392342539
NM_000138.5:c.5557T>A