Canonical Allele Identifier: PA2829529650
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2090392
ClinVar RCV Id: RCV003020885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Val139Leu
CA409655527
NM_004518.5:c.415G>C
CA409655530
NM_004518.5:c.415G>T