Canonical Allele Identifier: PA2829531327
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Cys516Arg
CA409645118
NM_004518.5:c.1546T>C