Canonical Allele Identifier: PA2830345196
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205951
ClinVar RCV Id: RCV000187955 RCV000686537 RCV001838986 RCV002415807
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Pro634Leu
CA090961
NM_172106.3:c.1901C>T