ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830344928
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1430155
ClinVar RCV Id:
RCV001967432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg430Gln
CA9958470
NM_172106.3:c.1289G>A