ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829529832
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ala196Val
CA342514
NM_004518.5:c.587C>T