Canonical Allele Identifier: PA2499256748
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043541
ClinVar RCV Id: RCV001347662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Ser780dup
CA2374774344
NM_001382235.1:c.2339_2341dup