Allele Registry

Canonical Allele Identifier: PA2827591486

Gene: PEX5 HGNC NCBI

ClinVar RCV:

RCV000371902

RCV001202630

RCV003147446

RCV003920292

ClinVar Variation:

310435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338060.1:p.Met634Ile	CA6426621 NM_001351131.2:c.1902G>A CA383740941 NM_001351131.2:c.1902G>T CA383740945 NM_001351131.2:c.1902G>C