ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449350
Gene: SLC6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485887
RCV000517929
RCV002274039
RCV003762748
RCV004556060
ClinVar Variation:
421211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003033.3:p.Val511Met
CA16617802
NM_003042.4:c.1531G>A