ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547955
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378037
ClinVar RCV Id:
RCV000431250
RCV000650685
RCV001081134
RCV002314148
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Gln498Arg
CA5327014
NM_001272003.2:c.1493A>G