Canonical Allele Identifier: PA2829531051
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1009330
ClinVar RCV Id: RCV001306799

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Ser417Pro
CA409646800
NM_004518.5:c.1249T>C