ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139745381
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205925
ClinVar RCV Id:
RCV000187927
RCV003753100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Gln664Arg
CA315507
NM_001382235.1:c.1991A>G