ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827435254
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335179.1:p.Thr260Met
CA2254990
NM_001348250.2:c.779C>T