Canonical Allele Identifier: PA2573162839
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys617Ser
CA392339185
NM_000138.5:c.1850G>C
CA392339188
NM_000138.5:c.1849T>A