Canonical Allele Identifier: PA915959227
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys460Ser
CA392343865
NM_000138.5:c.1379G>C
CA392343873
NM_000138.5:c.1378T>A