ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375389
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210024
ClinVar RCV Id:
RCV000191969
RCV000514570
RCV000604517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Leu350Met
CA346991
NM_001370086.1:c.1048T>A