ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573307786
Gene: SLC13A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1433548
ClinVar RCV Id:
RCV001982284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808218.1:p.Leu485Pro
CA397738446
NM_177550.5:c.1454T>C