Canonical Allele Identifier: PA2830347417
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 855374
ClinVar RCV Id: RCV001060631

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Cys743Tyr
CA9958100
NM_172108.3:c.2228G>A
CA916083759
NM_172108.3:c.2228_2229delinsAT