ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210673
Gene: SLC13A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202396
RCV003955216
ClinVar Variation:
218170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808218.1:p.Ser427Leu
CA210672
NM_177550.5:c.1280C>T