ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827435034
Gene: SLC6A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192368
ClinVar RCV Id:
RCV001092965
RCV003156080
RCV003444212
RCV003595872
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335179.1:p.Arg44Gln
CA200217
NM_001348250.2:c.131G>A