Canonical Allele Identifier: PA2573163013
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys862Ser
CA392332709
NM_000138.5:c.2585G>C
CA392332715
NM_000138.5:c.2584T>A