Allele Registry

Canonical Allele Identifier: PA2580116894

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV002735610

ClinVar Variation:

1970878

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Gly1212Arg	CA368160643 NM_000466.3:c.3634G>C CA368160644 NM_000466.3:c.3634G>A