Canonical Allele Identifier: PA1139751128
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 840062
ClinVar RCV Id: RCV001041962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Arg375Cys
CA317452048
NM_172109.3:c.1123C>T