Allele Registry

Canonical Allele Identifier: PA2573194104

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001982493

ClinVar Variation:

1444588

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Ser506Pro	CA4341380 NM_001282677.2:c.1516T>C