Canonical Allele Identifier: PA2828375260
Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476612
ClinVar Variation Id: 852705
ClinVar RCV Id: RCV001057369

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357015.1:p.Ser175Arg
CA9724759
NM_001370086.1:c.525C>A
CA407963661
NM_001370086.1:c.525C>G
CA407963667
NM_001370086.1:c.523A>C