Allele Registry

Canonical Allele Identifier: PA119071

Gene: PEX12 HGNC NCBI

ClinVar RCV:

RCV000008221

RCV000675048

ClinVar Variation:

7779

HGVS (amino-acid)	Matching Registered Transcripts
NP_000277.1:p.Leu317Phe	CA119070 NM_000286.3:c.949C>T