Canonical Allele Identifier: PA1139745396
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205850
ClinVar RCV Id: RCV000815524 RCV001705016 RCV002444762 RCV001847823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Pro795Ser
CA315318
NM_001382235.1:c.2383C>T