ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139748194
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960645
ClinVar RCV Id:
RCV001234207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_212134.3:p.Ile172Val
CA9724764
NM_033409.4:c.514A>G