ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408542
Gene: KCNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000371693
RCV003137877
ClinVar Variation:
280254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Arg474Ser
CA10603169
NM_020822.3:c.1420C>A