ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826547921
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2419221
ClinVar RCV Id:
RCV003112465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Glu466del
CA467698382
NM_001272003.2:c.1396_1398del