ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502626
Gene: SLC13A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422076
ClinVar RCV Id:
RCV000481819
RCV000810315
RCV002526621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808218.1:p.Val131Ile
CA8331722
NM_177550.5:c.391G>A