ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062379
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418726
ClinVar RCV Id:
RCV000478609
RCV001563652
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Cys169Phe
CA16620976
NM_172109.3:c.506G>T