ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375312
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044232
ClinVar RCV Id:
RCV001348455
RCV002395771
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357015.1:p.Leu255Phe
CA407963147
NM_001370086.1:c.763C>T