ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828076383
Gene: SLC52A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
458407
ClinVar RCV:
RCV000553303
RCV001449687
RCV001561011
RCV002395455
RCV003945299
ClinVar Variation:
473198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350047.1:p.Val347Met
CA4938356
NM_001363118.2:c.1039G>A