Canonical Allele Identifier: PA915959426
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys950Ser
CA392330412
NM_000138.5:c.2849G>C
CA392330416
NM_000138.5:c.2848T>A