Canonical Allele Identifier: PA2829531814
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_004509.2:p.Pro677Leu
CA9958148
NM_004518.5:c.2030C>T