Canonical Allele Identifier: PA2825858287
Gene: SLC13A5 HGNC NCBI
ClinVar RCV:
RCV001312783
ClinVar Variation:
1014097
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001137310.1:p.Thr518Ile
CA8331296
NM_001143838.3:c.1553C>T