Allele Registry

Canonical Allele Identifier: PA2826880588

Gene: SLC25A46 HGNC NCBI

ClinVar RCV:

RCV000412634

RCV002473001

ClinVar Variation:

372241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290179.1:p.Pro242Leu	CA16042259 NM_001303250.3:c.725C>T