ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139711490
Gene: SLC6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003033.3:p.Ala334Ser
CA351790601
NM_003042.4:c.1000G>T