ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827435294
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335179.1:p.Ala288Val
CA200221
NM_001348250.2:c.863C>T