Canonical Allele Identifier: PA658825944
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1320Ser
CA269523937
NM_000138.5:c.3959G>C
CA392322199
NM_000138.5:c.3958T>A