Allele Registry

Canonical Allele Identifier: PA110261

Gene: SLC33A1 HGNC NCBI

ClinVar RCV:

RCV000006506

ClinVar Variation:

6132

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177921.1:p.Ser113Arg	CA117967 NM_001190992.2:c.339T>G CA355143838 NM_001190992.2:c.339T>A CA355143842 NM_001190992.2:c.337A>C