ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062382
Gene: KCNQ2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742107.1:p.Val175Leu
NM_172109.3:c.523G>C
NM_172109.3:c.523G>T