Allele Registry

Canonical Allele Identifier: PA2827593627

Gene: PEX5 HGNC NCBI

ClinVar RCV:

RCV000403373

RCV000729311

RCV001049488

RCV001252798

RCV001775113

RCV002307484

RCV002522252

ClinVar Variation:

310427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338064.2:p.Asn498Ser	CA6426487 NM_001351135.3:c.1493A>G