Canonical Allele Identifier: PA658825995
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1793Ser
CA392345988
NM_000138.5:c.5378G>C
CA392345996
NM_000138.5:c.5377T>A