ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830345270
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393693
ClinVar RCV Id:
RCV001884599
RCV002272522
RCV002282636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ala688Asp
CA317422271
NM_172106.3:c.2063C>A