ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826547488
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540575
ClinVar RCV Id:
RCV000650645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Val13Ala
CA5326228
NM_001272003.2:c.38T>C