ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826547850
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002022823
ClinVar Variation:
1503439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Leu392Ile
CA375501710
NM_001272003.2:c.1174C>A