Canonical Allele Identifier: PA2573162386
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2652Ser
CA392322967
NM_000138.5:c.7955G>C
CA392322973
NM_000138.5:c.7954T>A