Canonical Allele Identifier: PA891845418
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2190Ser
CA392334895
NM_000138.5:c.6569G>C
CA392334903
NM_000138.5:c.6568T>A