ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243475
Gene: KCNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065873.2:p.Arg100Gln
NM_020822.3:c.299G>A