Allele Registry

Canonical Allele Identifier: PA916013798

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000592002

RCV001275212

RCV003905523

ClinVar Variation:

498032

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Asn916Ser	CA4340846 NM_001282678.2:c.2747A>G