Allele Registry

Canonical Allele Identifier: PA2580116892

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV003080603

ClinVar Variation:

2170566

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ser1211Asn	CA368160667 NM_000466.3:c.3632G>A