Allele Registry

Canonical Allele Identifier: PA2826665305

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000595661

RCV002532668

ClinVar Variation:

502507

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Arg1218Gln	CA4340717 NM_001282677.2:c.3653G>A