ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828374964
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579662
ClinVar RCV Id:
RCV000703005
RCV002499264
RCV002406635
RCV003432746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357014.1:p.His263Tyr
CA9724683
NM_001370085.1:c.787C>T