ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375439
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
144
ClinVar RCV Id:
RCV000000167
RCV000826040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Val413Ala
CA339797
NM_001370086.1:c.1238T>C