Allele Registry

Canonical Allele Identifier: PA645485691

Gene: PEX13 HGNC NCBI

ClinVar RCV:

RCV000318147

RCV001057894

RCV004549611

ClinVar Variation:

289192

HGVS (amino-acid)	Matching Registered Transcripts
NP_002609.1:p.Leu48Phe	CA1673247 NM_002618.4:c.142C>T