Canonical Allele Identifier: PA2830346411
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573138
ClinVar RCV Id: RCV003315385

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Phe104Leu
CA9958860
NM_172108.3:c.312C>G
CA409656546
NM_172108.3:c.312C>A
CA409656553
NM_172108.3:c.310T>C