Canonical Allele Identifier: PA645405801
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1942Ser
CA10587808
NM_000138.5:c.5825G>C
CA392340127
NM_000138.5:c.5824T>A