Canonical Allele Identifier: PA2830344308
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219241
ClinVar RCV Id: RCV000203587 RCV000820061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Leu107Phe
CA347947
NM_172106.3:c.319C>T