Allele Registry

Canonical Allele Identifier: PA916013678

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000325375

RCV001458350

RCV002518035

ClinVar Variation:

288355

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Ser98Phe	CA4341643 NM_001282677.2:c.293C>T