ClinGen Allele Registry
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Canonical Allele Identifier:
PA3075987747
Gene: KCNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Leu46Val
CA375493233
NM_020822.3:c.136C>G