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: TGFBI HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000423935.1:p.Arg48Ser
CA250551
ENST00000508076.5:c.144G>C
CA361046763
ENST00000508076.5:c.144G>T