ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111786
Gene: SLC5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1996914
ClinVar RCV Id:
RCV002807115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000334.1:p.Ile571Val
CA10198302
NM_000343.4:c.1711A>G