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: PEX1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Asp716Glu	CA368170890 NM_001282678.2:c.2148T>G CA368170893 NM_001282678.2:c.2148T>A