Canonical Allele Identifier: PA2825058446
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1408Ser
CA392318087
NM_000138.5:c.4223G>C
CA392318094
NM_000138.5:c.4222T>A