Allele Registry

Canonical Allele Identifier: PA2573169708

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001887241

ClinVar Variation:

1395714

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ala682Thr	CA368182993 NM_000466.3:c.2044G>A