Allele Registry

Canonical Allele Identifier: PA2741818143

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV003760872

ClinVar Variation:

2814701

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Glu743Lys	CA368178883 NM_000466.3:c.2227G>A