ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827435973
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335180.1:p.Arg459Cys
CA2255316
NM_001348251.2:c.1375C>T