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
ENSP00000248633.4:p.Asn514Lys	CA368190105 ENST00000248633.9:c.1542T>G CA368190107 ENST00000248633.9:c.1542T>A