ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130390
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_065873.2:p.Arg428Gln
CA130389
NM_020822.3:c.1283G>A