ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408586
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000443900
ClinVar Variation:
390094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Ser982Pro
CA16605458
NM_020822.3:c.2944T>C