Allele Registry

Canonical Allele Identifier: PA2573185852

Gene: PEX2 HGNC NCBI

ClinVar RCV:

RCV002051165

ClinVar Variation:

1349831

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165558.2:p.Cys184Leu	CA2573143377 NM_001172087.2:c.550_551delinsCT