Canonical Allele Identifier: PA110261
Gene: SLC33A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6132
ClinVar RCV Id: RCV000006506

Amino-acid Alleles

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