Canonical Allele Identifier: PA1139677608
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2663Ser
CA392322773
NM_000138.5:c.7988G>C
CA392322782
NM_000138.5:c.7987T>A