Canonical Allele Identifier: PA2829531014
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 461403
ClinVar RCV Id: RCV000530666 RCV000660441 RCV001311999 RCV003315352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Pro400Leu
CA9958554
NM_004518.5:c.1199C>T