Canonical Allele Identifier: PA2830345268
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387804
ClinVar RCV Id: RCV001884243
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Pro687Leu
CA9958148
NM_172106.3:c.2060C>T