Canonical Allele Identifier: PA2830345248
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725440
ClinVar RCV Id: RCV003588104

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ser676Arg
CA409639031
NM_172106.3:c.2028C>G
CA409639032
NM_172106.3:c.2028C>A
CA409639037
NM_172106.3:c.2026A>C