Allele Registry

Canonical Allele Identifier: PA2828531748

Gene: PEX5 HGNC NCBI

ClinVar RCV:

RCV000307470

RCV001087319

RCV003955435

ClinVar Variation:

281738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361575.1:p.Arg356Gln	CA6426380 NM_001374646.1:c.1067G>A