ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826381535
Gene: SLC5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529229
ClinVar RCV Id:
RCV000634562
RCV003403455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243243.1:p.Gln330Arg
CA10198221
NM_001256314.2:c.989A>G