Allele Registry

Canonical Allele Identifier: PA2827590872

Gene: PEX5 HGNC NCBI

ClinVar Allele:

408744

ClinVar RCV:

RCV000480471

RCV001856846

ClinVar Variation:

420777

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338059.1:p.Ser563Leu	CA6426593 NM_001351130.3:c.1688C>T