Canonical Allele Identifier: PA2573163414
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1998Ser
CA392339706
NM_000138.5:c.5993G>C
CA392339710
NM_000138.5:c.5992T>A