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
ENSP00000394413.1:p.Ser554Arg	CA368188235 ENST00000428214.5:c.1662C>G CA368188236 ENST00000428214.5:c.1662C>A CA368188242 ENST00000428214.5:c.1660A>C