ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826547584
Gene: KCNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258932.1:p.Ala130Val
CA5326488
NM_001272003.2:c.389C>T