Allele Registry

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: PUS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000324726.5:p.Ser230Arg	CA387299148 ENST00000322060.9:c.688A>C CA387299152 ENST00000322060.9:c.690T>A CA387299153 ENST00000322060.9:c.690T>G