ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580433947
Gene: KCNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Pro66Ala
CA375493360
NM_020822.3:c.196C>G