Canonical Allele Identifier: PA2830345260
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052247
ClinVar RCV Id: RCV001360393
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Phe683Leu
CA409638982
NM_172106.3:c.2049C>A
CA409638983
NM_172106.3:c.2049C>G
CA409638988
NM_172106.3:c.2047T>C