Allele Registry

Canonical Allele Identifier: PA245942

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000178773

RCV000764731

RCV002516781

ClinVar Variation:

197673

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Thr222Ile	CA245941 NM_000466.3:c.665C>T