Canonical Allele Identifier: PA2830345338
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129333
ClinVar RCV Id: RCV000117336 RCV000230360 RCV001537812 RCV002313895 RCV003315307
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Tyr737Cys
CA240975
NM_172106.3:c.2210A>G