Canonical Allele Identifier: PA2573162267
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2470Ser
CA392327766
NM_000138.5:c.7409G>C
CA392327773
NM_000138.5:c.7408T>A