ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830346186
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065598
ClinVar RCV Id:
RCV003990675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ala754Pro
CA409638162
NM_172107.3:c.2260G>C