ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375186
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262231
ClinVar RCV Id:
RCV000249592
RCV001510811
RCV001537335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Ile74Met
CA9724816
NM_001370086.1:c.222C>G