ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547946
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003804880
ClinVar Variation:
2949714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Arg493Ser
CA375506041
NM_001272003.2:c.1477C>A