Canonical Allele Identifier: PA2573162793
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys570Ser
CA392340924
NM_000138.5:c.1709G>C
CA392340933
NM_000138.5:c.1708T>A