Canonical Allele Identifier: PA2830344312
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449878
ClinVar RCV Id: RCV000522683

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ser113Tyr
CA409656464
NM_172106.3:c.338C>A
CA658658881
NM_172106.3:c.338_339delinsAT