ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344994
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ala484Val
CA315447
NM_172106.3:c.1451C>T