Canonical Allele Identifier: PA2825057115
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys358Ser
CA392347574
NM_000138.5:c.1073G>C
CA392347589
NM_000138.5:c.1072T>A