Canonical Allele Identifier: PA2829531260
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21764
ClinVar RCV Id: RCV000020972 RCV000117341 RCV000465560 RCV001703417 RCV002313718 RCV003315295
ClinVar Variation Id: 445484
ClinVar RCV Id: RCV000514872 RCV000616102 RCV001089306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Glu487Asp
CA288924
NM_004518.5:c.1461G>C
CA9958409
NM_004518.5:c.1461G>T