Allele Registry

Canonical Allele Identifier: PA2573194138

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001983271

ClinVar Variation:

1461213

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Cys948Ser	CA368167329 NM_001282677.2:c.2843G>C CA368167333 NM_001282677.2:c.2842T>A