Canonical Allele Identifier: PA282205
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Ser
CA014710
NM_000138.5:c.4048T>A
CA392320479
NM_000138.5:c.4049G>C