Canonical Allele Identifier: PA1139672506
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys499Ser
CA392342695
NM_000138.5:c.1496G>C
CA392342703
NM_000138.5:c.1495T>A