Allele Registry

Canonical Allele Identifier: PA2826665519

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000731756

RCV002535239

ClinVar Variation:

596048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Ile295Val	CA4341382 NM_001282678.2:c.883A>G