Canonical Allele Identifier: PA658825964
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1450Ser
CA392354788
NM_000138.5:c.4349G>C
CA392354791
NM_000138.5:c.4348T>A