ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830345353
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
842415
ClinVar RCV Id:
RCV001044833
RCV002479278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg749Gln
CA9958105
NM_172106.3:c.2246G>A