ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573166120
Gene: SLC5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347286
ClinVar RCV Id:
RCV002033070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000334.1:p.Ala575Glu
CA10198305
NM_000343.4:c.1724C>A