Canonical Allele Identifier: PA658800947
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2550Ser
CA392325128
NM_000138.5:c.7649G>C
CA392325136
NM_000138.5:c.7648T>A