ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826381571
Gene: SLC5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138440
ClinVar RCV Id:
RCV003041412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243243.1:p.Arg431Cys
CA10198296
NM_001256314.2:c.1291C>T