ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826692319
Gene: SLC13A5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001312783
ClinVar Variation:
1014097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271438.1:p.Thr547Ile
CA8331296
NM_001284509.2:c.1640C>T