ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826547940
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1215380
ClinVar RCV Id:
RCV001585262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Thr491Met
CA375506034
NM_001272003.2:c.1472C>T