ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573276113
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482304
ClinVar RCV Id:
RCV002025142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Ala584Val
CA375506816
NM_020822.3:c.1751C>T