ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828374824
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476605
ClinVar RCV Id:
RCV000559040
RCV002420525
RCV003139858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357014.1:p.Arg65Gln
CA9724820
NM_001370085.1:c.194G>A