ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826548253
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540578
ClinVar RCV Id:
RCV000650648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Cys733del
CA591147001
NM_001272003.2:c.2197_2199del