ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829531743
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1041204
ClinVar RCV Id:
RCV001344973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ile658Val
CA9958160
NM_004518.5:c.1972A>G