ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547923
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004222
ClinVar RCV Id:
RCV001300896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Cys467Arg
CA375505878
NM_001272003.2:c.1399T>C