ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916014258
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_001271439.1:p.Val88Ile
CA8331722
NM_001284510.2:c.262G>A