This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: FBN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000424571.1:p.Ser1394Arg
CA360754854
ENST00000508053.5:c.4182C>G
CA360754857
ENST00000508053.5:c.4182C>A
CA360754880
ENST00000508053.5:c.4180A>C