ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139749998
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Leu107Phe
CA347947
NM_172109.3:c.319C>T