Canonical Allele Identifier: PA2825059536
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2204Ser
CA392334601
NM_000138.5:c.6611G>C
CA392334607
NM_000138.5:c.6610T>A