Canonical Allele Identifier: PA891845451
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2413Ser
CA392328781
NM_000138.5:c.7238G>C
CA392328785
NM_000138.5:c.7237T>A