ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375251
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642283
ClinVar RCV Id:
RCV000795720
RCV002334480
RCV001759504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Val167Ile
CA9724768
NM_001370086.1:c.499G>A