ClinGen Allele Registry
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Canonical Allele Identifier:
PA343805
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000032799
RCV000412976
RCV000553512
RCV000787272
RCV001375627
RCV003398586
ClinVar Variation:
39599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Arg398Gln
CA343804
NM_020822.3:c.1193G>A