Allele Registry

Canonical Allele Identifier: PA916013744

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000731756

RCV002535239

ClinVar Variation:

596048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Ile503Val	CA4341382 NM_001282677.2:c.1507A>G