Canonical Allele Identifier: PA2499228850
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys637Ser
CA392339056
NM_000138.5:c.1910G>C
CA392339059
NM_000138.5:c.1909T>A