ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827436072
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335181.1:p.Thr82Met
CA2254990
NM_001348252.2:c.245C>T