ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826692553
Gene: SLC13A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140753
ClinVar RCV Id:
RCV000128861
RCV000826127
RCV001701766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271439.1:p.Thr184Met
CA210667
NM_001284510.2:c.551C>T