Allele Registry

Canonical Allele Identifier: PA658803607

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000596374

RCV001203812

ClinVar Variation:

497946

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ala682Val	CA4341232 NM_000466.3:c.2045C>T