Canonical Allele Identifier: PA2573163369
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1905Ser
CA269533790
NM_000138.5:c.5714G>C
CA392341314
NM_000138.5:c.5713T>A