Canonical Allele Identifier: PA658826121
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2622Ser
CA392323373
NM_000138.5:c.7865G>C
CA392323376
NM_000138.5:c.7864T>A