ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374452
Gene: SLC5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000334.1:p.Leu288Val
CA10198072
NM_000343.4:c.862T>G