Allele Registry

Canonical Allele Identifier: PA2825120792

Gene: PEX5 HGNC NCBI

ClinVar RCV:

RCV000403373

RCV000729311

RCV001049488

RCV001252798

RCV001775113

RCV002307484

RCV002522252

ClinVar Variation:

310427

HGVS (amino-acid)	Matching Registered Transcripts
NP_000310.2:p.Asn512Ser	CA6426487 NM_000319.5:c.1535A>G