Canonical Allele Identifier: PA2499228815
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1989Ser
CA392339802
NM_000138.5:c.5966G>C
CA392339806
NM_000138.5:c.5965T>A