Canonical Allele Identifier: PA2828886538
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444440
ClinVar RCV Id: RCV003154088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Trp146Arg
CA409655426
NM_001382235.1:c.436T>C
CA409655428
NM_001382235.1:c.436T>A