ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375327
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
873320
ClinVar RCV Id:
RCV001095540
RCV001203115
RCV003483781
RCV002411628
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Arg268Trp
CA9724678
NM_001370086.1:c.802C>T