ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829531324
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Val515Met
CA240402
NM_004518.5:c.1543G>A