Canonical Allele Identifier: PA2573061467
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1958Ser
CA392340016
NM_000138.5:c.5873G>C
CA392340019
NM_000138.5:c.5872T>A