ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830347347
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg694Cys
CA9958136
NM_172108.3:c.2080C>T