Canonical Allele Identifier: PA658826047
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2142Ser
CA392336614
NM_000138.5:c.6425G>C
CA392336617
NM_000138.5:c.6424T>A