Canonical Allele Identifier: PA658826058
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2210Ser
CA392333699
NM_000138.5:c.6629G>C
CA392333706
NM_000138.5:c.6628T>A