Canonical Allele Identifier: PA2825057012
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys271Ser
CA392352499
NM_000138.5:c.812G>C
CA392352506
NM_000138.5:c.811T>A