ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820312
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540578
ClinVar RCV Id:
RCV000650648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Cys778del
CA591147001
NM_020822.3:c.2332_2334del