Canonical Allele Identifier: PA915959868
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1876Ser
CA392341871
NM_000138.5:c.5627G>C
CA392341879
NM_000138.5:c.5626T>A