Canonical Allele Identifier: PA915959798
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1663Ser
CA392350212
NM_000138.5:c.4988G>C
CA392350224
NM_000138.5:c.4987T>A