Canonical Allele Identifier: PA2573163444
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2084Ser
CA392337024
NM_000138.5:c.6251G>C
CA392337027
NM_000138.5:c.6250T>A