Canonical Allele Identifier: PA2829531069
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002529
ClinVar RCV Id: RCV001298967

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Pro430Leu
CA409646721
NM_004518.5:c.1289C>T