Canonical Allele Identifier: PA2830345320
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373718
ClinVar RCV Id: RCV000414686 RCV001089800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Pro727Leu
CA16043137
NM_172106.3:c.2180C>T