Allele Registry

Canonical Allele Identifier: PA2826665964

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001983271

ClinVar Variation:

1461213

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Cys797Ser	CA368167329 NM_001282678.2:c.2390G>C CA368167333 NM_001282678.2:c.2389T>A