Allele Registry

Canonical Allele Identifier: PA2499245382

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001324387

RCV001760414

ClinVar Variation:

1024229

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Arg581Gln	CA4341312 NM_001282677.2:c.1742G>A