ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375282
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000191977
RCV001195405
ClinVar Variation:
210032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Arg212Cys
CA347001
NM_001370086.1:c.634C>T