ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580536320
Gene: SLC13A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2140104
ClinVar RCV Id:
RCV003052947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808218.1:p.Pro339Thr
CA397743738
NM_177550.5:c.1015C>A