ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829530820
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678161
ClinVar Variation:
369781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ser352Pro
CA10654798
NM_004518.5:c.1054T>C