ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830347120
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187912
RCV000203596
RCV000678185
RCV000706752
RCV001251207
ClinVar Variation:
205913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg522Trp
CA278566
NM_172108.3:c.1564C>T