Canonical Allele Identifier: PA2499228780
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys534Ser
CA392341355
NM_000138.5:c.1601G>C
CA392341362
NM_000138.5:c.1600T>A