ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827436534
Gene: SLC6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003444214
RCV003595874
ClinVar Variation:
192370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335182.1:p.Ala156Pro
CA200219
NM_001348253.2:c.466G>C