ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408583
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416995
ClinVar Variation:
375526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Lys947Glu
CA16044324
NM_020822.3:c.2839A>G