Allele Registry

Canonical Allele Identifier: PA2499240960

Gene: PEX2 HGNC NCBI

ClinVar Allele:

1045670

ClinVar RCV:

RCV001359597

RCV001825996

ClinVar Variation:

1051542

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165558.2:p.Asn235Lys	CA4788665 NM_001172087.2:c.705T>A CA371556760 NM_001172087.2:c.705T>G