ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139750839
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21810
ClinVar RCV Id:
RCV000413623
RCV000678102
RCV000813877
RCV003315306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Arg333Gln
CA342542
NM_172109.3:c.998G>A