Canonical Allele Identifier: PA2830345361
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 855374
ClinVar RCV Id: RCV001060631
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Cys756Tyr
CA9958100
NM_172106.3:c.2267G>A
CA916083759
NM_172106.3:c.2267_2268delinsAT