ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828374909
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2171750
ClinVar RCV Id:
RCV003095841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357014.1:p.Pro181His
CA407963624
NM_001370085.1:c.542C>A