ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830347175
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187921
RCV000416983
RCV000678062
RCV000792605
RCV002399331
RCV003315296
ClinVar Variation:
21769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg550Gln
CA315489
NM_172108.3:c.1649G>A