Canonical Allele Identifier: PA2830347250
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205951
ClinVar RCV Id: RCV000187955 RCV000686537 RCV001838986 RCV002415807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Pro621Leu
CA090961
NM_172108.3:c.1862C>T