ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580161513
Gene: SLC6A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Leu83Arg
CA415079266
NM_001142806.1:c.248T>G