Allele Registry

Canonical Allele Identifier: PA2825119916

Gene: PEX2 HGNC NCBI

ClinVar RCV:

RCV000014704

RCV003323360

ClinVar Variation:

13705

HGVS (amino-acid)	Matching Registered Transcripts
NP_000309.2:p.Glu55Lys	CA123379 NM_000318.3:c.163G>A