Canonical Allele Identifier: PA2825059863
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2406Ser
CA392328825
NM_000138.5:c.7217G>C
CA392328830
NM_000138.5:c.7216T>A