Canonical Allele Identifier: PA2830346886
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205892
ClinVar RCV Id: RCV000187889 RCV001056663 RCV001089685 RCV003315320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Pro335Leu
CA315418
NM_172108.3:c.1004C>T