Canonical Allele Identifier: PA658825985
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1672Ser
CA500016
NM_000138.5:c.5015G>C
CA392349962
NM_000138.5:c.5014T>A