ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547849
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413029
RCV001865289
ClinVar Variation:
372907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Leu392Phe
CA16042762
NM_001272003.2:c.1174C>T