ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826381572
Gene: SLC5A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132588
ClinVar RCV:
RCV000114940
RCV000726922
ClinVar Variation:
127077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243243.1:p.Arg431His
CA151364
NM_001256314.2:c.1292G>A