Allele Registry

Canonical Allele Identifier: PA2580116404

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV003088915

ClinVar Variation:

2171658

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ser649Leu	CA368183888 NM_000466.3:c.1946C>T