Canonical Allele Identifier: PA2499256739
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052247
ClinVar RCV Id: RCV001360393
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Phe719Leu
CA409638982
NM_001382235.1:c.2157C>A
CA409638983
NM_001382235.1:c.2157C>G
CA409638988
NM_001382235.1:c.2155T>C