ClinGen Allele Registry
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Canonical Allele Identifier:
PA645408611
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000431889
RCV001083596
RCV002270255
RCV002270256
RCV003932561
ClinVar Variation:
378039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Glu1232Lys
CA5328027
NM_020822.3:c.3694G>A