ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830347307
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1514658
ClinVar RCV Id:
RCV002029459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Gly666Ser
CA409639019
NM_172108.3:c.1996G>A