ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830346757
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Thr276Ile
CA10654815
NM_172108.3:c.827C>T