Allele Registry

Canonical Allele Identifier: PA2499245362

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001478690

ClinVar Variation:

1141284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Glu75Lys	CA4341667 NM_001282677.2:c.223G>A