ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658663330
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000560375
RCV001591215
RCV002254526
RCV003315353
ClinVar Variation:
461417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Thr771Ile
CA9958103
NM_172107.3:c.2312C>T