Canonical Allele Identifier: PA2825059345
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2053Ser
CA392337900
NM_000138.5:c.6158G>C
CA392337917
NM_000138.5:c.6157T>A