ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829415962
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003033.3:p.Tyr139Cys
CA351789225
NM_003042.4:c.416A>G