ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826547935
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2940827
ClinVar RCV Id:
RCV003800137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Leu484Val
CA375505988
NM_001272003.2:c.1450C>G