ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826692292
Gene: SLC13A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202401
ClinVar Variation:
218174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271438.1:p.Asp507His
CA279908
NM_001284509.2:c.1519G>C