ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547842
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39593
ClinVar RCV Id:
RCV000032793
RCV000117358
RCV000413614
RCV000805871
RCV002251941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Arg383Gln
CA130389
NM_001272003.2:c.1148G>A