Canonical Allele Identifier: PA2825058816
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1674Ser
CA392349889
NM_000138.5:c.5021G>C
CA392349901
NM_000138.5:c.5020T>A