ClinGen Allele Registry
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Canonical Allele Identifier:
PA916062326
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678075
ClinVar Variation:
21784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Ser105del
CA342502
NM_172109.3:c.314_316del