Canonical Allele Identifier: PA1139673002
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys699Ser
CA392337963
NM_000138.5:c.2096G>C
CA392337973
NM_000138.5:c.2095T>A