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_001269606.1:p.Asn514Lys	CA368190105 NM_001282677.2:c.1542T>G CA368190107 NM_001282677.2:c.1542T>A