Canonical Allele Identifier: PA2825058047
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1111Ser
CA392326984
NM_000138.5:c.3332G>C
CA392326988
NM_000138.5:c.3331T>A