ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243475
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196502
ClinVar RCV Id:
RCV000177321
RCV001852188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Arg100Gln
CA243474
NM_020822.3:c.299G>A