Allele Registry

Canonical Allele Identifier: PA2580189249

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV002972510

ClinVar Variation:

2076821

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Leu501_Val504del	CA2580078173 NM_001282677.2:c.1502_1513del