ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344991
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ala483Pro
CA10654788
NM_172106.3:c.1447G>C