Canonical Allele Identifier: PA2825058785
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1652Ser
CA392350478
NM_000138.5:c.4955G>C
CA392350490
NM_000138.5:c.4954T>A