ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827436328
Gene: SLC6A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421211
ClinVar RCV Id:
RCV000485887
RCV000517929
RCV002274039
RCV004556060
RCV003762748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335181.1:p.Val333Met
CA16617802
NM_001348252.2:c.997G>A